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Oculocutaneous albinism

MONDO:0018910

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.

Also known as: OCA, non-syndromic oculocutaneous albinism, nonsyndromic oculocutaneous albinism, albinism, oculocutaneous

4 clinical trials for this condition and its sub-types.

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Sub-types

Oculocutaneous albinism type 1A (1) Autosomal dominant oculocutaneous albinism (0) Minimal pigment oculocutaneous albinism type 1 (0) Oculocutaneous albinism type 1 (0) Oculocutaneous albinism type 1B (0) Oculocutaneous albinism type 2 (0) Oculocutaneous albinism type 3 (0) Oculocutaneous albinism type 4 (0) Oculocutaneous albinism type 5 (0) Oculocutaneous albinism type 6 (0) Oculocutaneous albinism type 7 (0) Oculocutaneous albinism type 8 (0) Temperature-sensitive oculocutaneous albinism type 1 (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Skin disorder (132) Inborn errors of metabolism (45) Human disease (14) Skin pigmentation disorder (11) Hereditary skin disorder (6) Disease of genetic or genomic mechanism (2) Hypopigmentation of the skin (2)
Trials to join now! 3 Completed 1
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